T10A (p.Thr10Ala) variant of BRCA2 (P51587)
T10A (p.Thr10Ala) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
T10A (p.Thr10Ala) variant details
- p.Thr10Ala
- rs786203080
- ClinGen CA016728
- ClinVar RCV000166222
- ClinVar RCV000470603
- Likely benign
- Missense
- REVEL 0.12
- AlphaMissense 0.20
- MetaLR 0.01
- MetaSVM -0.98
- CADD 22.80
- PolyPhen-2 0.57
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)